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74008005: syndroom van partiële trisomie 5p (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\5p partial trisomy

\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 5\5p partial trisomy

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

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2021. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
5p partial trisomy	Is a	Trisomy and partial trisomy of autosome	false	Inferred relationship	Some
5p partial trisomy	Is a	Anomaly of chromosome pair 5	false	Inferred relationship	Some
5p partial trisomy	Finding site	Chromosome pair 5	false	Inferred relationship	Some	1
5p partial trisomy	Finding site	Sex chromosome	false	Inferred relationship	Some
5p partial trisomy	Occurrence	Congenital	false	Inferred relationship	Some
5p partial trisomy	Associated morphology	Trisomy	false	Inferred relationship	Some
5p partial trisomy	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Some
5p partial trisomy	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	1
5p partial trisomy	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some
5p partial trisomy	Finding site	Chromosome pair 5	false	Inferred relationship	Some	1
5p partial trisomy	Occurrence	Congenital	true	Inferred relationship	Some	1
5p partial trisomy	Finding site	Chromosome pair 5	true	Inferred relationship	Some	1
5p partial trisomy	Associated morphology	Partial trisomy	true	Inferred relationship	Some	1
5p partial trisomy	Is a	Partial trisomy of chromosome 5	true	Inferred relationship	Some
5p partial trisomy	Occurrence	Congenital	true	Inferred relationship	Some	2
5p partial trisomy	Finding site	Short arm of chromosome	true	Inferred relationship	Some	2
5p partial trisomy	Associated morphology	Partial trisomy	true	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
5p13 microduplication syndrome (disorder)	Is a	True	5p partial trisomy	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
4565130013	5p partial trisomy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4565139014	Partial trisomy of short arm of chromosome 5	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4565140011	Partial trisomy of short arm of chromosome 5 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
7964111000146118	partiële trisomie van chromosoom 5p	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7964131000146113	syndroom van partiële trisomie 5p (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7964141000146117	syndroom van partiële trisomie 5p	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8035271000146110	partiële trisomie van korte 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)