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10572007: syndroom van partiële trisomie 13q (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 13\Partial trisomy of chromosome 13\13q partial trisomy syndrome

\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 13\13q partial trisomy syndrome

\Chromosomal disorder (disorder)\Autosomal chromosomal disorder (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 13\13q partial trisomy syndrome
\Chromosomal disorder (disorder)\Duplication of chromosome\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 13\13q partial trisomy syndrome
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 13\Partial trisomy of chromosome 13\13q partial trisomy syndrome
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 13\13q partial trisomy syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2009. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
13q partial trisomy syndrome	Is a	Anomaly of chromosome pair 13	false	Inferred relationship	Some
13q partial trisomy syndrome	Is a	Trisomy and partial trisomy of autosome	false	Inferred relationship	Some
13q partial trisomy syndrome	Occurrence	Congenital	false	Inferred relationship	Some
13q partial trisomy syndrome	Finding site	Chromosome pair 13	false	Inferred relationship	Some	2
13q partial trisomy syndrome	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Some
13q partial trisomy syndrome	Finding site	Sex chromosome	false	Inferred relationship	Some
13q partial trisomy syndrome	Associated morphology	Trisomy	false	Inferred relationship	Some	1
13q partial trisomy syndrome	Finding site	Chromosome pair 13	false	Inferred relationship	Some	1
13q partial trisomy syndrome	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	2
13q partial trisomy syndrome	Finding site	Chromosome pair 13	false	Inferred relationship	Some	2
13q partial trisomy syndrome	Finding site	Chromosome pair 13	false	Inferred relationship	Some	1
13q partial trisomy syndrome	Finding site	Chromosome pair 13	false	Inferred relationship	Some	2
13q partial trisomy syndrome	Finding site	Chromosome pair 13	false	Inferred relationship	Some	1
13q partial trisomy syndrome	Finding site	Chromosome pair 13	false	Inferred relationship	Some	1
13q partial trisomy syndrome	Finding site	Chromosome pair 13	false	Inferred relationship	Some	2
13q partial trisomy syndrome	Finding site	Chromosome pair 13	false	Inferred relationship	Some	2
13q partial trisomy syndrome	Finding site	Chromosome pair 13	false	Inferred relationship	Some	1
13q partial trisomy syndrome	Finding site	Chromosome pair 13	false	Inferred relationship	Some	2
13q partial trisomy syndrome	Finding site	Chromosome pair 13	false	Inferred relationship	Some	1
13q partial trisomy syndrome	Associated morphology	Trisomy	false	Inferred relationship	Some
13q partial trisomy syndrome	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some
13q partial trisomy syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
13q partial trisomy syndrome	Finding site	Chromosome pair 13	true	Inferred relationship	Some	1
13q partial trisomy syndrome	Associated morphology	Partial trisomy	true	Inferred relationship	Some	1
13q partial trisomy syndrome	Is a	Partial trisomy of chromosome 13	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Complete trisomy 13 syndrome	Is a	False	13q partial trisomy syndrome	Inferred relationship	Some
Distal trisomy 13q (disorder)	Is a	True	13q partial trisomy syndrome	Inferred relationship	Some
Non-distal trisomy 13q	Is a	True	13q partial trisomy syndrome	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
18377017	13q partial trisomy syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
574386010	13q partial trisomy syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
7947221000146119	syndroom van partiële trisomie 13q	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7947241000146113	syndroom van partiële trisomie 13q (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7948961000146116	partiële trisomie van chromosoom 13q	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7948971000146110	partiële trisomie van lange arm van chromosoom 13	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)