554003: 2p 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 2\Partial trisomy of chromosome 2 (disorder)\2p partial trisomy syndrome (disorder)

\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 2 (disorder)\2p partial trisomy syndrome (disorder)

\Chromosomal disorder (disorder)\Autosomal chromosomal disorder (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 2 (disorder)\2p partial trisomy syndrome (disorder)
\Chromosomal disorder (disorder)\Duplication of chromosome (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 2 (disorder)\2p partial trisomy syndrome (disorder)
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 2\Partial trisomy of chromosome 2 (disorder)\2p partial trisomy syndrome (disorder)
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 2 (disorder)\2p partial trisomy syndrome (disorder)

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
2p partial trisomy syndrome (disorder)	Is a	Anomaly of chromosome pair 2	false	Inferred relationship	Existential restriction modifier (core metadata concept)
2p partial trisomy syndrome (disorder)	Is a	Trisomy and partial trisomy of autosome	false	Inferred relationship	Existential restriction modifier (core metadata concept)
2p partial trisomy syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
2p partial trisomy syndrome (disorder)	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
2p partial trisomy syndrome (disorder)	Associated morphology	Trisomy (morphologic abnormality)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
2p partial trisomy syndrome (disorder)	Finding site	Sex chromosome	false	Inferred relationship	Existential restriction modifier (core metadata concept)
2p partial trisomy syndrome (disorder)	Finding site	Chromosome pair 2 (cell structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
2p partial trisomy syndrome (disorder)	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
2p partial trisomy syndrome (disorder)	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)
2p partial trisomy syndrome (disorder)	Finding site	Chromosome pair 2 (cell structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
2p partial trisomy syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
2p partial trisomy syndrome (disorder)	Finding site	Chromosome pair 2 (cell structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
2p partial trisomy syndrome (disorder)	Associated morphology	Partial trisomy	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
2p partial trisomy syndrome (disorder)	Is a	Partial trisomy of chromosome 2 (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Distal trisomy 2p (disorder)	Is a	True	2p partial trisomy syndrome (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Proximal duplication of short arm of chromosome 2	Is a	True	2p partial trisomy syndrome (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
2000017	2p partial trisomy syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
793752018	2p partial trisomy syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2000017	2p partial trisomy syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2000017	2p partial trisomy syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2000017	2p partial trisomy syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
793752018	2p partial trisomy syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
793752018	2p partial trisomy syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
793752018	2p partial trisomy syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
793752018	2p partial trisomy syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4384531000241116	trisomie partielle 2p	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
4384531000241116	trisomie partielle 2p	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module