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22497004: syndroom van partiële trisomie 9q (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 9\Trisomy 9\Partial trisomy of chromosome 9 (disorder)\9q partial trisomy syndrome (disorder)

\Trisomy and partial trisomy of autosome\Trisomy 9\Partial trisomy of chromosome 9 (disorder)\9q partial trisomy syndrome (disorder)

\Chromosomal disorder (disorder)\Autosomal chromosomal disorder (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Trisomy 9\Partial trisomy of chromosome 9 (disorder)\9q partial trisomy syndrome (disorder)
\Chromosomal disorder (disorder)\Duplication of chromosome\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Trisomy 9\Partial trisomy of chromosome 9 (disorder)\9q partial trisomy syndrome (disorder)
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 9\Trisomy 9\Partial trisomy of chromosome 9 (disorder)\9q partial trisomy syndrome (disorder)
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Trisomy 9\Partial trisomy of chromosome 9 (disorder)\9q partial trisomy syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
9q partial trisomy syndrome (disorder)	Is a	Trisomy and partial trisomy of autosome	false	Inferred relationship	Some
9q partial trisomy syndrome (disorder)	Is a	Anomaly of chromosome pair 9	false	Inferred relationship	Some
9q partial trisomy syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some
9q partial trisomy syndrome (disorder)	Finding site	Sex chromosome	false	Inferred relationship	Some
9q partial trisomy syndrome (disorder)	Associated morphology	Trisomy	false	Inferred relationship	Some
9q partial trisomy syndrome (disorder)	Finding site	Chromosome pair 9	false	Inferred relationship	Some	1
9q partial trisomy syndrome (disorder)	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Some
9q partial trisomy syndrome (disorder)	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	1
9q partial trisomy syndrome (disorder)	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some
9q partial trisomy syndrome (disorder)	Finding site	Chromosome pair 9	false	Inferred relationship	Some	1
9q partial trisomy syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
9q partial trisomy syndrome (disorder)	Finding site	Chromosome pair 9	true	Inferred relationship	Some	1
9q partial trisomy syndrome (disorder)	Associated morphology	Partial trisomy	true	Inferred relationship	Some	1
9q partial trisomy syndrome (disorder)	Is a	Partial trisomy of chromosome 9 (disorder)	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Distal trisomy 9q	Is a	True	9q partial trisomy syndrome (disorder)	Inferred relationship	Some
Non-distal trisomy 9q	Is a	True	9q partial trisomy syndrome (disorder)	Inferred relationship	Some
Medial duplication of long arm of chromosome 9	Is a	True	9q partial trisomy syndrome (disorder)	Inferred relationship	Some
Proximal duplication of long arm of chromosome 9 (disorder)	Is a	True	9q partial trisomy syndrome (disorder)	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
37760014	9q partial trisomy syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
751910019	9q partial trisomy syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
7965781000146112	partiële trisomie van chromosoom 9q	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7965791000146114	syndroom van partiële trisomie 9q	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7965801000146113	syndroom van partiële trisomie 9q (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7965811000146110	partiële trisomie van lange arm van chromosoom 9	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)