1003412004: Medial duplication of long arm of chromosome 2 (disorder)

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

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

\Congenital disease (disorder)\Congenital chromosomal disease\...

\Anomaly of chromosome pair\Anomaly of chromosome pair 2\Partial trisomy of chromosome 2 (disorder)\2q partial trisomy syndrome\Medial duplication of long arm of chromosome 2

\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 2 (disorder)\2q partial trisomy syndrome\Medial duplication of long arm of chromosome 2

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

Descriptions:

Id Description Lang Type Status Case? Module

4168191015 Medial duplication of long arm of chromosome 2 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4168192010 Medial duplication of long arm of chromosome 2 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

14006991000172112 duplication médiale 2q fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

14007001000172119 duplication médiale du bras long du chromosome 2 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

4856001000172111 mediale duplicatie van lange arm van chromosoom 2 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Medial duplication of long arm of chromosome 2	Is a	2q partial trisomy syndrome	true	Inferred relationship	Some
Medial duplication of long arm of chromosome 2	Occurrence	Congenital	true	Inferred relationship	Some	1
Medial duplication of long arm of chromosome 2	Finding site	Chromosome pair 2	true	Inferred relationship	Some	1
Medial duplication of long arm of chromosome 2	Associated morphology	Partial trisomy	true	Inferred relationship	Some	1
Medial duplication of long arm of chromosome 2	Associated morphology	Deletion of long arm	true	Inferred relationship	Some	2
Medial duplication of long arm of chromosome 2	Finding site	Long arm of chromosome	true	Inferred relationship	Some	2
Medial duplication of long arm of chromosome 2	Occurrence	Congenital	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets