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228050004: 21q partial trisomy (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Disorder of foetus and/or newborn\Congenital disease\Congenital chromosomal disease\...

\Anomaly of chromosome pair\Anomaly of chromosome pair 21\Partial trisomy of chromosome 21\21q partial trisomy

\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 21\21q partial trisomy

\Chromosomal disorder (disorder)\Autosomal chromosomal disorder (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 21\21q partial trisomy
\Chromosomal disorder (disorder)\Duplication of chromosome (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 21\21q partial trisomy
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 21\Partial trisomy of chromosome 21\21q partial trisomy
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 21\21q 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
21q partial trisomy	Is a	Anomaly of chromosome pair 21	false	Inferred relationship	Existential restriction modifier (core metadata concept)
21q partial trisomy	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
21q partial trisomy	Finding site	Chromosome pair 21	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
21q partial trisomy	Finding site	Sex chromosome	false	Inferred relationship	Existential restriction modifier (core metadata concept)
21q partial trisomy	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
21q partial trisomy	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
21q partial trisomy	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)
21q partial trisomy	Finding site	Chromosome pair 21	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
21q partial trisomy	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
21q partial trisomy	Associated morphology	Cellular AND/OR subcellular abnormality	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
21q partial trisomy	Finding site	Chromosome pair 21	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
21q partial trisomy	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
21q partial trisomy	Is a	Partial trisomy of chromosome 21	true	Inferred relationship	Existential restriction modifier (core metadata concept)
21q partial trisomy	Finding site	Chromosome pair 21	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
21q partial trisomy	Finding site	Long arm of chromosome (cell structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
21q partial trisomy	Associated morphology	Partial trisomy	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
21q partial trisomy	Associated morphology	Partial trisomy	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
21q partial distal trisomy (disorder)	Is a	True	21q partial trisomy	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
4555283012	21q partial trisomy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4555284018	21q partial trisomy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
342042011	21q partial trisomy syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
615592013	21q partial trisomy syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
615592013	21q partial trisomy syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4555283012	21q partial trisomy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4555284018	21q partial trisomy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4950841000241118	trisomie partielle 21q	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
4950841000241118	trisomie partielle 21q	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module