76447002: 6q partial trisomy syndrome (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 6\Partial trisomy of chromosome 6 (disorder)\6q partial trisomy syndrome

\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 6 (disorder)\6q partial trisomy syndrome

\Chromosomal disorder (disorder)\Autosomal chromosomal disorder (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 6 (disorder)\6q partial trisomy syndrome
\Chromosomal disorder (disorder)\Duplication of chromosome (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 6 (disorder)\6q partial trisomy syndrome
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 6\Partial trisomy of chromosome 6 (disorder)\6q partial trisomy syndrome
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 6 (disorder)\6q partial trisomy syndrome

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
6q partial trisomy syndrome	Is a	Anomaly of chromosome pair 6	false	Inferred relationship	Existential restriction modifier (core metadata concept)
6q partial trisomy syndrome	Is a	Trisomy and partial trisomy of autosome	false	Inferred relationship	Existential restriction modifier (core metadata concept)
6q partial trisomy syndrome	Finding site	Sex chromosome	false	Inferred relationship	Existential restriction modifier (core metadata concept)
6q partial trisomy syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
6q partial trisomy syndrome	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
6q partial trisomy syndrome	Finding site	Chromosome pair 6 (cell structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
6q partial trisomy syndrome	Associated morphology	Trisomy (morphologic abnormality)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
6q partial trisomy syndrome	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
6q partial trisomy syndrome	Finding site	Chromosome pair 6 (cell structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
6q partial trisomy syndrome	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)
6q partial trisomy syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
6q partial trisomy syndrome	Finding site	Chromosome pair 6 (cell structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
6q partial trisomy syndrome	Associated morphology	Partial trisomy	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
6q partial trisomy syndrome	Is a	Partial trisomy of chromosome 6 (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Distal trisomy 6q	Is a	True	6q partial trisomy syndrome	Inferred relationship	Existential restriction modifier (core metadata concept)
Proximal duplication of long arm of chromosome 6 (disorder)	Is a	True	6q partial trisomy syndrome	Inferred relationship	Existential restriction modifier (core metadata concept)

Reference Sets

GB English

US English

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Id	Description	Lang	Type	Status	Case?	Module
126957014	6q partial trisomy syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
817168011	6q partial trisomy syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
126957014	6q partial trisomy syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
126957014	6q partial trisomy syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
126957014	6q partial trisomy syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
817168011	6q partial trisomy syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
817168011	6q partial trisomy syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
817168011	6q partial trisomy syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
817168011	6q partial trisomy syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4639771000241112	trisomie partielle 6q	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
4639771000241112	trisomie partielle 6q	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module