726371001: Deletion of part of chromosome 4 (disorder)

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

\Fetal and/or neonatal disorder\Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\...

\Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 4 (disorder)

\Anomaly of chromosome pair 4\Deletion of part of chromosome 4 (disorder)

\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\...

\Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 4 (disorder)

\Anomaly of chromosome pair 4\Deletion of part of chromosome 4 (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3448811015 Deletion of part of chromosome 4 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3448812010 Deletion of part of chromosome 4 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

6037021000241117 monosomie partielle du chromosome 4 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6037031000241115 délétion partielle du chromosome 4 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Deletion of part of chromosome 4 (disorder)	Is a	Anomaly of chromosome pair 4	true	Inferred relationship	Some
Deletion of part of chromosome 4 (disorder)	Is a	Deletion of part of autosome	true	Inferred relationship	Some
Deletion of part of chromosome 4 (disorder)	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Some	1
Deletion of part of chromosome 4 (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Deletion of part of chromosome 4 (disorder)	Finding site	Chromosome pair 4 (cell structure)	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
4p partial monosomy syndrome	Is a	True	Deletion of part of chromosome 4 (disorder)	Inferred relationship	Some
4q partial monosomy syndrome	Is a	True	Deletion of part of chromosome 4 (disorder)	Inferred relationship	Some

Reference Sets