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768930008: partiële trisomie van korte arm van chromosoom 8 (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 8\Partial trisomy of chromosome 8\Partial trisomy of short arm of chromosome 8

\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 8\Partial trisomy of short arm of chromosome 8

\Chromosomal disorder (disorder)\Autosomal chromosomal disorder (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 8\Partial trisomy of short arm of chromosome 8
\Chromosomal disorder (disorder)\Duplication of chromosome\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 8\Partial trisomy of short arm of chromosome 8
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 8\Partial trisomy of chromosome 8\Partial trisomy of short arm of chromosome 8
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 8\Partial trisomy of short arm of chromosome 8

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Partial trisomy of short arm of chromosome 8	Occurrence	Congenital	true	Inferred relationship	Some	2
Partial trisomy of short arm of chromosome 8	Is a	Partial trisomy of chromosome 8	true	Inferred relationship	Some
Partial trisomy of short arm of chromosome 8	Occurrence	Congenital	true	Inferred relationship	Some	1
Partial trisomy of short arm of chromosome 8	Associated morphology	Partial trisomy	true	Inferred relationship	Some	2
Partial trisomy of short arm of chromosome 8	Associated morphology	Partial trisomy	true	Inferred relationship	Some	1
Partial trisomy of short arm of chromosome 8	Finding site	Chromosome pair 8	true	Inferred relationship	Some	1
Partial trisomy of short arm of chromosome 8	Finding site	Short arm of chromosome	true	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Trisomy 8p syndrome (disorder)	Is a	True	Partial trisomy of short arm of chromosome 8	Inferred relationship	Some
8p23.1 duplication syndrome (disorder)	Is a	True	Partial trisomy of short arm of chromosome 8	Inferred relationship	Some
Distal trisomy 8p (disorder)	Is a	True	Partial trisomy of short arm of chromosome 8	Inferred relationship	Some
Proximal duplication of short arm of chromosome 8	Is a	True	Partial trisomy of short arm of chromosome 8	Inferred relationship	Some

Reference Sets

GB English

US English

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Id	Description	Lang	Type	Status	Case?	Module
3687525016	Partial trisomy of short arm of chromosome 8	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3687526015	Partial trisomy of short arm of chromosome 8 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3687527012	Partial duplication short arm chromosome 8	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
7992271000146110	partiële trisomie van korte arm van chromosoom 8	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7992301000146113	syndroom van partiële trisomie 8p	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7992311000146110	partiële trisomie van korte arm van chromosoom 8 (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8038061000146118	partiële trisomie 8p	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8038071000146112	partiële duplicatie 8p	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)