40389006: 12q 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 12\Trisomy 12 (disorder)\Partial trisomy of chromosome 12 (disorder)\12q partial trisomy syndrome

\Trisomy and partial trisomy of autosome\Trisomy 12 (disorder)\Partial trisomy of chromosome 12 (disorder)\12q partial trisomy syndrome

\Chromosomal disorder (disorder)\Autosomal chromosomal disorder (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Trisomy 12 (disorder)\Partial trisomy of chromosome 12 (disorder)\12q partial trisomy syndrome
\Chromosomal disorder (disorder)\Duplication of chromosome (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Trisomy 12 (disorder)\Partial trisomy of chromosome 12 (disorder)\12q partial trisomy syndrome
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 12\Trisomy 12 (disorder)\Partial trisomy of chromosome 12 (disorder)\12q partial trisomy syndrome
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Trisomy 12 (disorder)\Partial trisomy of chromosome 12 (disorder)\12q 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
12q partial trisomy syndrome	Is a	Anomaly of chromosome pair 12	false	Inferred relationship	Existential restriction modifier (core metadata concept)
12q partial trisomy syndrome	Is a	Trisomy and partial trisomy of autosome	false	Inferred relationship	Existential restriction modifier (core metadata concept)
12q partial trisomy syndrome	Finding site	Chromosome pair 12	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
12q partial trisomy syndrome	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
12q partial trisomy syndrome	Associated morphology	Trisomy (morphologic abnormality)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
12q partial trisomy syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
12q partial trisomy syndrome	Finding site	Sex chromosome	false	Inferred relationship	Existential restriction modifier (core metadata concept)
12q partial trisomy syndrome	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
12q partial trisomy syndrome	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)
12q partial trisomy syndrome	Finding site	Chromosome pair 12	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
12q partial trisomy syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
12q partial trisomy syndrome	Finding site	Chromosome pair 12	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
12q partial trisomy syndrome	Associated morphology	Partial trisomy	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
12q partial trisomy syndrome	Is a	Partial trisomy of chromosome 12 (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Distal trisomy 12q (disorder)	Is a	True	12q partial trisomy syndrome	Inferred relationship	Existential restriction modifier (core metadata concept)
Proximal duplication of long arm of chromosome 12	Is a	True	12q partial trisomy syndrome	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
67333011	12q partial trisomy syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
777022011	12q partial trisomy syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
67333011	12q partial trisomy syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
67333011	12q partial trisomy syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
67333011	12q partial trisomy syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
777022011	12q partial trisomy syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
777022011	12q partial trisomy syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
777022011	12q partial trisomy syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
777022011	12q partial trisomy syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4522201000241111	trisomie partielle 12q	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
4522201000241111	trisomie partielle 12q	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module