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50992006: syndroom van partiële trisomie 22q (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 22\Trisomy 22\Partial trisomy of chromosome 22\22q partial trisomy (disorder)

\Trisomy and partial trisomy of autosome\Trisomy 22\Partial trisomy of chromosome 22\22q partial trisomy (disorder)

\Chromosomal disorder (disorder)\Autosomal chromosomal disorder (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Trisomy 22\Partial trisomy of chromosome 22\22q partial trisomy (disorder)
\Chromosomal disorder (disorder)\Duplication of chromosome\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Trisomy 22\Partial trisomy of chromosome 22\22q partial trisomy (disorder)
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 22\Trisomy 22\Partial trisomy of chromosome 22\22q partial trisomy (disorder)
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Trisomy 22\Partial trisomy of chromosome 22\22q partial trisomy (disorder)

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
22q partial trisomy (disorder)	Is a	Anomaly of chromosome pair 22	false	Inferred relationship	Some
22q partial trisomy (disorder)	Is a	Trisomy and partial trisomy of autosome	false	Inferred relationship	Some
22q partial trisomy (disorder)	Finding site	Sex chromosome	false	Inferred relationship	Some
22q partial trisomy (disorder)	Occurrence	Congenital	false	Inferred relationship	Some
22q partial trisomy (disorder)	Associated morphology	Trisomy	false	Inferred relationship	Some
22q partial trisomy (disorder)	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Some
22q partial trisomy (disorder)	Finding site	Chromosome pair 22	false	Inferred relationship	Some	1
22q partial trisomy (disorder)	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	1
22q partial trisomy (disorder)	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some
22q partial trisomy (disorder)	Finding site	Chromosome pair 22	false	Inferred relationship	Some	1
22q partial trisomy (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
22q partial trisomy (disorder)	Finding site	Chromosome pair 22	true	Inferred relationship	Some	1
22q partial trisomy (disorder)	Associated morphology	Partial trisomy	true	Inferred relationship	Some	1
22q partial trisomy (disorder)	Is a	Partial trisomy of chromosome 22	true	Inferred relationship	Some
22q partial trisomy (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
22q partial trisomy (disorder)	Finding site	Long arm of chromosome	true	Inferred relationship	Some	2
22q partial trisomy (disorder)	Associated morphology	Partial trisomy	true	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
22q11.2 duplication syndrome (disorder)	Is a	True	22q partial trisomy (disorder)	Inferred relationship	Some
Distal trisomy 22q syndrome (disorder)	Is a	True	22q partial trisomy (disorder)	Inferred relationship	Some
Distal 22q11.2 microduplication syndrome (disorder)	Is a	True	22q partial trisomy (disorder)	Inferred relationship	Some

Reference Sets

GB English

US English

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Id	Description	Lang	Type	Status	Case?	Module
4555269010	22q partial trisomy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4555270011	22q partial trisomy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
7955421000146112	syndroom van partiële trisomie 22q	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7955431000146114	syndroom van partiële trisomie 22q (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7955441000146118	partiële trisomie van chromosoom 22q	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7955451000146115	partiële trisomie van lange arm van chromosoom 22	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)