897546001: Distal trisomy 12q (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\Distal trisomy 12q (disorder)

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

\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\Distal trisomy 12q (disorder)
\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\Distal trisomy 12q (disorder)
\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\Distal trisomy 12q (disorder)
\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\Distal trisomy 12q (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Distal trisomy 12q (disorder)	Is a	12q partial trisomy syndrome	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Distal trisomy 12q (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Distal trisomy 12q (disorder)	Finding site	Chromosome pair 12	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Distal trisomy 12q (disorder)	Associated morphology	Partial trisomy	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Distal trisomy 12q (disorder)	Finding site	Long arm of chromosome (cell structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Distal trisomy 12q (disorder)	Associated morphology	Partial trisomy	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Distal trisomy 12q (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
4034288010	Distal trisomy 12q (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4034289019	Distal trisomy 12q	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4034288010	Distal trisomy 12q (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4034289019	Distal trisomy 12q	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
6087421000241119	trisomie distale 12q	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6087431000241117	trisomie distale du bras long du chromosome 12	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6087441000241110	trisomie distale du chromosome 12q	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6087421000241119	trisomie distale 12q	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6087431000241117	trisomie distale du bras long du chromosome 12	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6087441000241110	trisomie distale du chromosome 12q	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module