764518004: Distal trisomy 2p (disorder)

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

\Chromosomal disorder\Autosomal chromosomal disorder\Autosomal duplication\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 2\2p partial trisomy syndrome\Distal trisomy 2p
\Chromosomal disorder\Duplication of chromosome\Autosomal duplication\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 2\2p partial trisomy syndrome\Distal trisomy 2p
\Chromosomal disorder\Congenital disorder due to abnormality of chromosome number OR structure\Anomaly of chromosome pair\Anomaly of chromosome pair 2\Partial trisomy of chromosome 2\2p partial trisomy syndrome\Distal trisomy 2p
\Chromosomal disorder\Congenital disorder due to abnormality of chromosome number OR structure\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 2\2p partial trisomy syndrome\Distal trisomy 2p

\Congenital disease\Congenital disorder due to abnormality of chromosome number OR structure\...

\Anomaly of chromosome pair\Anomaly of chromosome pair 2\Partial trisomy of chromosome 2\2p partial trisomy syndrome\Distal trisomy 2p

\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 2\2p partial trisomy syndrome\Distal trisomy 2p

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2018. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3650177013 Distal trisomy 2p en Synonym Active Only initial character case insensitive SNOMED CT core module

3650178015 Distal duplication 2p en Synonym Active Only initial character case insensitive SNOMED CT core module

3650179011 Distal trisomy 2p (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module

3650180014 Telomeric duplication 2p en Synonym Active Only initial character case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Distal trisomy 2p	Is a	2p partial trisomy syndrome	true	Inferred relationship	Existential restriction modifier
Distal trisomy 2p	Associated morphology	Partial trisomy	true	Inferred relationship	Existential restriction modifier	1
Distal trisomy 2p	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Distal trisomy 2p	Finding site	Chromosome pair 2	true	Inferred relationship	Existential restriction modifier	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets